Results 41 to 50 of about 283,904 (179)
Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update
Indian Journal of Pathology and Microbiology, 2022 Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration.
Deepti Narasimhaiah +2 more
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Cardiac manifestations in Emery–Dreifuss muscular dystrophy [PDF]
Canadian Medical Association Journal, 2018 KEY POINTS A 35-year-old man with a known history of Emery–Dreifuss muscular dystrophy called emergency medical services (EMS) while at work one morning, reporting palpitations, lightheadedness, fatigue and a rapid heart rate.
Whitney, Faiella, Ricardo, Bessoudo
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Stem Cell Research, 2020 Human iPSC lines were generated from peripheral blood mononuclear cells of patient carrying LMNA mutation associated with Emery–Dreifuss muscular dystrophy accompanied by atrioventricular block and paroxysmal atrial fibrillation.
Kseniya Perepelina +13 more
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Annals of Indian Academy of Neurology, 2012 Emery-Dreifuss myopathy can be associated with a cardiomyopathy and cardiac dysrhythmias. The inheritance pattern of Emery-Dreifuss muscular dystrophy (EDMD) is X linked, whereas EDMD2 is autosomal dominant.
Khushal B Jadhav +2 more
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Annals of Clinical and Translational Neurology, 2021 Exome sequencing (ES) has revolutionized rare disease management, yet only ~25%–30% of patients receive a molecular diagnosis. A limiting factor is the quality of available phenotypic data.
Daniel G. Calame +16 more
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Muscle‐Specific Kinase Signaling and Its Therapeutic Potential
Muscle &Nerve, EarlyView.ABSTRACT The function of the neuromuscular junction (NMJ) is compromised in many neuromuscular diseases (NMDs) such as autoimmune or congenital myasthenia gravis (MG), amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies.
Stine Marie Jensen +2 more
wiley +1 more source
[A boy with Emery-Dreifuss muscular dystrophy].
No to hattatsu = Brain and development, 1995 We reported a 12-year-old boy with Emery-Dreifuss muscular dystrophy (EMD). He was born after uncomplicated full term pregnancy and delivery. There was neither consanguinity nor a history of neuromuscular disorders or cardiac diseases in his family. He walked at 14 months. Toe walking was recognized at age 5 years.
Sumitani, Susumu +3 more
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An investigation of emerin and nuclear lamins: : Interactions, distribution, and role in cell cycle regulation, in cells derived from EDMD patients. [PDF]
, 2002 Emery Dreifuss muscular dystrophy (EDMD) is caused by mutations either in the gene encoding emerin or in the gene encoding A-type lamins (lamins A and C).
Maria, Choleza
core
Emery-Dreifuss muscular dystrophy: anatomical-clinical correlation (case report) [PDF]
Arquivos de Neuro-Psiquiatria, 2000 We report on a man that had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows since he was 5 years old . At age 26 he developed tachycardia episodes.
ALZIRA ALVES DE SIQUEIRA CARVALHO +5 more
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Oxidative Stress, Inflammation and Connexin Hemichannels in Muscular Dystrophies
Biomedicines, 2022 Muscular dystrophies (MDs) are a heterogeneous group of congenital neuromuscular disorders whose clinical signs include myalgia, skeletal muscle weakness, hypotonia, and atrophy that leads to progressive muscle disability and loss of ambulation.
Arlek González-Jamett +5 more
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